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Ablepharon: Report of a rare case

Journal: Journal of Clinical Images and Medical Case Reports (Vol.2, No. 2)

Publication Date:

Authors : ; ; ; ; ;

Page : 1-2

Keywords : absence of the eyelids; congenital pathology;

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Abstract

Ablepharon is a rare, congenital pathology, characterized by the absence of the eyelids. It can be isolated or constitute complex syndromes with significant local changes that can affect the face, bone, genital system and skin [1]. We report the clinical observation of a 3-day old newborn with the following history: unsupervised pregnancy, unmedicalized home delivery with poor adaptation to extrauterine life. The ophthalmological examination found a bilateral Ablepharon, with an abscess on the entire cornea which interfered with the rest of the examination (Figure 1). This newborn also presents many dysmorphic signs including: significant cephalic distension, bilateral labio-maxillo-palatal cleft, with oligodactyly involving the upper and lower limbs (Figure 1). A radiological and biological assessment was requested, as well as a genetic study, but the child died as a result of severe respiratory distress. In all cases, a complete ophthalmological examination should be performed, possibly combined with a radiological check-up including a computed tomography (CT) scan and magnetic resonance imaging (MRI), especially in the most complex syndromes. The search for a family history with a genetic study is essential to confirm certain diagnoses and to authorise genetic counselling. [2]. Surgical reconstruction of the eyelids and bilateral penetrating keratoplasty is often necessary to protect the ocular surface and improve the functional prognosis. However, early amniotic membrane transplantation may be performed while awaiting definitive treatment.

Last modified: 2021-05-13 23:27:05